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Gynecol Endocrinol 2018 Mar 21:1-4. Epub 2018 Mar 21.

a Department of Gynecology and Obstetrics, Division of Obstetrics and Feto-maternal Medicine , Medical University of Vienna , Vienna , Austria.

McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle's disease is scarce, thus posing a challenge to pre- and peripartal management. Read More

Med Sci Sports Exerc 2018 Jan;50(1):3-10

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Toledo, SPAIN.

Introduction-purpose: McArdle disease (muscle glycogen phosphorylase deficiency) is a genetic condition associated with exercise intolerance, but how it affects lean mass (LM) and bone mineral content (BMC) and density (BMD) in patients is unknown. We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association with physical activity levels in patients.

Methods: A case-control, cross-sectional design was used to examine LM, BMC, and BMD by using dual-energy x-ray absorptiometry in 136 young adults of both sexes (36 McArdle patients (33 ± 15 yr) and 103 controls (34 ± 11 yr)). Read More

Mol Genet Metab 2018 Jan 21;123(1):21-27. Epub 2017 Nov 21.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address:

Background: McArdle disease (glycogen storage disease type V) is an inborn error of skeletal muscle metabolism, which affects glycogen phosphorylase (myophosphorylase) activity leading to an inability to break down glycogen. Patients with McArdle disease are exercise intolerant, as muscle glycogen-derived glucose is unavailable during exercise. Metabolic adaptation to blocked muscle glycogenolysis occurs at rest in the McArdle mouse model, but only in highly glycolytic muscle. Read More

BMC Genomics 2017 Nov 14;18(Suppl 8):819. Epub 2017 Nov 14.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

Background: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher.

Methods: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Read More

Neuromuscul Disord 2017 Nov 16;27(11):997-1008. Epub 2017 Jun 16.

Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address:

This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. Read More

Stem Cell Res 2017 08 28;23:188-192. Epub 2017 Jul 28.

Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols", (UAM-CSIC) Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain. Electronic address:

Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. Read More

J Clin Neurosci 2017 Dec 5;46:62-64. Epub 2017 Sep 5.

Department of Neurology, Mayo Clinic, Rochester, MN, United States. Electronic address:

A 35year-old male developed myalgias after moving furniture and was hospitalized with acute renal failure and rhabdomyolysis requiring hemodialysis. He then had several generalized tonic-clonic seizures. Brain MRI showed findings of posterior reversible encephalopathy syndrome (PRES). Read More

Proc Natl Acad Sci U S A 2017 08 17;114(31):8402-8407. Epub 2017 Jul 17.

Howard Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114;

McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated. Read More

Neuromuscul Disord 2017 Sep 3;27(9):852-855. Epub 2017 May 3.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. Read More

Muscle Nerve 2018 Jan 21;57(1):157-160. Epub 2017 Mar 21.

Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.

Introduction: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain.

Methods: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. Read More

Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851

Purpose Of Review: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. Read More

Am J Case Rep 2016 Nov 30;17:905-908. Epub 2016 Nov 30.

MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. Read More

Muscle Nerve 2017 Jun 16;55(6):916-918. Epub 2016 Dec 16.

Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.

Introduction: McArdle disease is a metabolic myopathy that presents with exercise intolerance and episodic rhabdomyolysis. Excessive muscle recruitment has also been shown to be present during strenuous exercise, suggesting decreased power output. These findings could potentially be explained by either impaired contractility, decreased fiber size, or altered fiber type proportion. Read More

Genet Med 2016 11 25;18(11):1128-1135. Epub 2016 Feb 25.

Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.

Purpose: McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs). Read More

Neurol Res 2016 Dec 20;38(12):1052-1055. Epub 2016 Oct 20.

a Department of Neurology , Martin-Luther-University Halle-Wittenberg , Halle (Saale) , Germany.

During physical activity in McArdle patients, little or no lactate is released in the skeletal muscle. However, excessive ammonia production has frequently been reported in these patients. Production of ammonia is catalysed by AMP deaminase (AMPD) and adenylate kinase (AK). Read More

J Appl Physiol (1985) 2016 Sep 21;121(3):699-708. Epub 2016 Jul 21.

Institute of Molecular Bioimaging and Physiology, National Research Council, Segrate, Italy; Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

Aerobic training can be effective in patients with mitochondrial myopathies (MM) and McArdle's disease (McA). The aim of the study was to use noninvasive functional evaluation methods, specifically aimed at skeletal muscle oxidative metabolism, to evaluate the effects of an aerobic exercise training (cycle ergometer, 12 wk, 4 days/wk, ∼65-70% of maximal heart rate) in 6 MM and 7 McA. Oxygen uptake and skeletal muscle vastus lateralis fractional O2 extraction by near-infrared spectroscopy were assessed during incremental and low-intensity constant work rate (CWR) exercises before (BEFORE) and at the end (AFTER) of training. Read More

Med Sci Sports Exerc 2016 08;48(8):1447

Texas A&M University College Station, TX.

J Clin Psychopharmacol 2016 Aug;36(4):406-8

Department of Nephrology-Transplantation University Hospital Dijon, France Association Néphrologie-Dialyse-Transplantation Dijon, France Department of Nephrology-Transplantation University Hospital Dijon, France

Am J Physiol Regul Integr Comp Physiol 2016 08 8;311(2):R307-14. Epub 2016 Jun 8.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark;

McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb muscle of 20-wk-old McArdle mice and vastus lateralis muscles from patients with McArdle disease. Read More

J Clin Neurol 2016 Jul 3;12(3):373-5. Epub 2016 Jun 3.

Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.

Acta Myol 2015 Dec;34(2-3):120-125

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells. Read More

Med Sci Sports Exerc 2016 08;48(8):1448-58

1Mitochondrial and Neuromuscular Diseases Laboratory and "MITOLAB-CM," Research Institute of Hospital "12 de Octubre" ("i + 12"), Madrid, SPAIN; 2Neuromuscular and Neuropediatric Research Group, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 3Department of Research and Doctorate Studies, European University, Madrid, SPAIN; 4Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; and 5Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, SPAIN.

Introduction: We recently generated a knock-in mouse model (PYGM p.R50X/p.R50X) of the McArdle disease (myophosphorylase deficiency). Read More

J Neuropathol Exp Neurol 2016 May 30;75(5):441-54. Epub 2016 Mar 30.

From the Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark (TOK, TLN, JV); and Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain (TP, AB, ALA).

McArdle disease (muscle glycogenosis type V) is caused by myophosphorylase deficiency, which leads to impaired glycogen breakdown. We investigated how myophosphorylase deficiency affects muscle physiology, morphology, and glucose metabolism in 20-week-old McArdle mice and compared the findings to those in McArdle disease patients. Muscle contractions in the McArdle mice were affected by structural degeneration due to glycogen accumulation, and glycolytic muscles fatigued prematurely, as occurs in the muscles of McArdle disease patients. Read More

Curr Pharm Des 2016 ;22(18):2657-63

Research Institute of Hospital 12 de Octubre (i+12), 6th Floor, Laboratories Sector, CAA Building, Avda. de Córdoba s/n, 28041 Madrid, Spain.

The intent of this article is to summarize current body of knowledge on the potential implication of the xanthine oxidase pathway (XO) on skeletal muscle damage. The possible involvement of the XO pathway in muscle damage is exemplified by the role of XO inhibitors (e.g. Read More

Masui 2015 Nov;64(11):1203-5

McArdle disease, known as type V glycogen storage disease, is a rare skeletal muscle disorder. Patients with McArdle disease lack skeletal muscle specific glycogen phosphorylase, and myophosphorylase. This subsequently leads to an elevation in serum creatine kinase levels, and results in suffering from exercise intolerance. Read More

J Hand Surg Am 2015 Dec;40(12):2377-9

Division of Plastic and Reconstructive Surgery, Department of Surgery, Washington University School of Medicine, Saint Louis, MO.

Glycogen storage disorders are rare diseases of metabolism that are usually diagnosed when a patient presents with recurrent fatigue, muscle pains, and exercise intolerance. In this case report, we describe a patient who presented with the second episode of nontraumatic compartment syndrome over a 10-year span. Because of the obscure presentation, we performed a muscle biopsy, which on muscle phosphorylase staining revealed McArdle disease (glycogen storage disease type V). Read More

Med Sci Sports Exerc 2016 Apr;48(4):673-9

1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.

McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first published report demonstrating the benefits of regular aerobic exercise for these patients. Read More

Physiol Genomics 2016 Feb 13;48(2):93-100. Epub 2015 Oct 13.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; and Universidad Europea, Madrid, Spain.

McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with pre-exercise carbohydrate ingestion) is the only treatment option that has proven useful for these patients. Read More

Physiol Genomics 2016 Feb 22;48(2):82-92. Epub 2015 Sep 22.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; and Instituto de Investigación Hospital 12 de Octubre (i+12) and Universidad Europea, Madrid, Spain.

The extremes of exercise capacity and health are considered a complex interplay between genes and the environment. In general, the study of animal models has proven critical for deep mechanistic exploration that provides guidance for focused and hypothesis-driven discovery in humans. Hypotheses underlying molecular mechanisms of disease and gene/tissue function can be tested in rodents to generate sufficient evidence to resolve and progress our understanding of human biology. Read More

No To Hattatsu 2015 Mar;47(2):94-8

Curr Rheumatol Rep 2015 Oct;17(10):63

Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Patients with autoimmune myositis typically present with muscle weakness, elevated serum levels of muscle enzymes, and abnormal muscle biopsies. However, patients with other acquired myopathies or genetic muscle diseases may have remarkably similar presentations. Making the correct diagnosis of another muscle disease can prevent these patients from being exposed to the risks of immunosuppressive medications, which benefit those with myositis, but not those with other types of muscle disease. Read More

Genet Med 2015 Aug;17(8):680-1

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Betheseda, Maryland, USA.

Genet Med 2015 Aug;17(8):679-80

1] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain [2] Universidad Europea, Madrid, Spain.

Reumatol Clin 2016 May-Jun;12(3):161-3. Epub 2015 Jul 30.

Servicio de Anatomía Patológica, Hospital Meixoeiro, Vigo, España.

A high serum level of creatine kinase (CK) is a common reason for referring to medical specialities. Myopathies are one of the causes of elevated levels of CK. McArdle disease is the most common disorder of skeletal muscle carbohydrate metabolism. Read More

Muscle Nerve 2015 Dec 24;52(6):1136-7. Epub 2015 Sep 24.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.

Neuromuscul Disord 2015 Sep 27;25(9):739-45. Epub 2015 May 27.

Vall D'Hebron Research Institute and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.

Muscle Nerve 2015 Nov 30;52(5):891-5. Epub 2015 Jun 30.

Neurology Clinics A & C, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.

Introduction: We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease.

Methods: Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot analysis. Mutation identification was performed by PCR amplification of all PYGM exons, followed by bidirectional sequencing. Read More

J Clin Endocrinol Metab 2015 Aug 1;100(8):E1096-104. Epub 2015 Jun 1.

Neuromuscular Research Unit, Department of Neurology (M.C.O., T.D.J., S.H., N.P., J.V.), Copenhagen Muscle Research Center (M.C.O., T.D.J., S.H., N.P., J.V., G.H.), and Clinical Metabolomics Core Facility (G.H.), Rigshospitalet, DK-2100 Copenhagen, Denmark; Department of Biomedical Sciences (G.H.), Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark; Neuromuscular Center (T.T., K.H., R.G.H.), Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, and the Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75235; and Department of Neurology (R.G.H.), North Texas VA Medical Center, Dallas, Texas 75216.

Context: Patients with blocked muscle glycogen breakdown (McArdle disease) have severely reduced exercise capacity compared to healthy individuals and are not assumed to produce lactate during exercise.

Objectives: The objectives were: 1) to quantify systemic and muscle lactate kinetics and oxidation rates and muscle energy utilization during exercise in patients with McArdle disease; and 2) to elucidate the role of lactate formation in muscle energy production.

Design And Setting: This was a single trial in a hospital. Read More

Neurol Sci 2015 Sep 19;36(9):1721-3. Epub 2015 May 19.

Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy,

Hum Mutat 2015 Jul 3;36(7):669-78. Epub 2015 Jun 3.

Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), , Universitat Autónoma de Barcelona, Barcelona, Spain.

McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases, limitations in activities of daily living. Read More

J Clin Pathol 2015 Jun 15;68(6):410-7. Epub 2015 Apr 15.

Queen Square Centre for Neuromuscular Diseases, London, UK.

Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders present with a range of symptoms including infantile hypotonia, myalgia/exercise tolerance, chronic or acute muscle weakness, cramps/spasms/stiffness or episodic acute rhabdomyolysis. Read More

J Physiol 2015 Jun 18;593(12):2693-706. Epub 2015 May 18.

Neuromuscular and Mitochondrial Disorders Laboratory, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

Key Points: This is the first study to analyse the effect of muscle glycogen phosphorylase depletion in metabolically different muscle types. In McArdle mice, muscle glycogen phosphorylase is absent in both oxidative and glycolytic muscles. In McArdle mice, the glycogen debranching enzyme (catabolic) is increased in oxidative muscles, whereas the glycogen branching enzyme (anabolic) is increased in glycolytic muscles. Read More

Dis Model Mech 2015 May 11;8(5):467-72. Epub 2015 Mar 11.

Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona 08035, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain

McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). It is an autosomic recessive disorder that is caused by mutations in the PYGM gene and typically presents with exercise intolerance, i.e. Read More

Genet Med 2015 Dec 5;17(12):1002-6. Epub 2015 Mar 5.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Purpose: McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this disorder. Read More

Eur J Neurol 2015 Jun 5;22(6):933-40. Epub 2015 Mar 5.

Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.

Background And Purpose: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease.

Methods: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with elevated creatine kinase (CK). In all, 1226 patients underwent the non-ischaemic forearm exercise test. Read More

Dtsch Med Wochenschr 2015 Feb 6;140(3):202-5. Epub 2015 Feb 6.

Klinik und Poliklinik für Neurologie, Universitätsklinik Köln.

Unlabelled: HISTORY AND PRESENTATION AT ADMISSION: A 25-year-old male patient presented with acute left sided chest pain. The patient reported no physical exercise but daytime fasting (with neither food nor liquid intake) which he had started several days before.

Investigations: ECG, echocardiography and chest X-ray were normal, but blood examination revealed elevated levels for creatine kinase (CK) and lactate dehydrogenase (LDH). Read More

Neuromuscul Disord 2015 Feb 13;25(2):111-9. Epub 2014 Oct 13.

Robert Jones and Agnes Hunt Orthopaedic hospital, Oswestry, United Kingdom.

McArdle disease is due to an absence of the enzyme muscle glycogen phosphorylase and results in significant physical impairment in humans. We hypothesised that sodium valproate, an HDAC inhibitor, might have the ability to up-regulate the enzyme. We treated McArdle sheep with sodium valproate given enterically at 20-60 mg/kg body wt. Read More

Cochrane Database Syst Rev 2014 Nov 12(11):CD003458. Epub 2014 Nov 12.

Background McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance,myoglobinuria rhabdomyolysis and acute renal failure. This is an update of a review first published in 2004.Objectives To review systematically the evidence from randomised controlled trials (RCTs) of pharmacological or nutritional treatments for improving exercise performance and quality of life in McArdle disease. Read More

BMJ Case Rep 2014 Oct 7;2014. Epub 2014 Oct 7.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

Despite the majority of patients with McArdle disease reporting symptoms including fatigue, cramps and episodes of myoglobinuria from early childhood, diagnosis is often delayed by several decades. Additionally, many individuals with rhabdomyolysis remain undiagnosed. The occurrence of symptoms during exercise, particularly isometric muscle contraction such as heavy lifting, is well known in McArdle disease. Read More

Ceylon Med J 2014 Sep;59(3):99-100

University Medical Unit, Teaching Hospital Karapitiya, Galle, Sri Lanka.